Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
adults
peripheral nervous system |
| gptkbp:cause |
LZTR1 gene mutation
SMARCB1 gene mutation |
| gptkbp:characterizedBy |
multiple schwannomas
|
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:distinctFrom |
gptkb:neurofibromatosis_type_2
gptkb:neurofibromatosis_type_1 |
| gptkbp:firstDescribed |
2005
|
| https://www.w3.org/2000/01/rdf-schema#label |
Schwannomatosis
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
tumor suppressor genes
|
| gptkbp:symptom |
pain
muscle weakness numbness |
| gptkbp:treatment |
surgery
pain management |
| gptkbp:bfsParent |
gptkb:Neurofibromatosis
gptkb:myelinating_Schwann_cell |
| gptkbp:bfsLayer |
7
|